Rare diseases in Spain: a look into the future
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference20 articles.
1. https://ec.europa.eu/health/non_communicable_diseases/rare_diseases_en (Accedido el 17/08/2021).
2. Clinical, genetic and quality-of-life study of a cohort of adult patients with tuberous sclerosis;De Sautu De Borbón;Orphanet J Rare Dis,2021
3. Fabry disease in the Spanish population: observational study with detection of 77 patients;Vieitez;Orphanet J Rare Dis,2018
4. Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants;Hernández-Arévalo;Orphanet J Rare Dis,2021
5. The increasing impact of translational research in the molecular diagnostics of neuromuscular diseases;Yubero;Int J Mol Sci,2021
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